All About Sarah

This is Sarah. She is the bravest, smartest, funniest and most determined little girl I know. She was born prematurely at 30 weeks, and spent the last four years misdiagnosed with Cerebral Palsy and Autism, which turned out to be a blessing in disguise. With those diagnoses, we began all of her therapies at 16 months, pushing her to interact with us, to walk and eat correctly. Sarah went through a short regression period around two years old, but she also took her first steps at two years old. We didn’t notice her fine motor skills declining (including speech) because she was finally able to walk. Doctors told us that gaining one skill would cause other skills to decline temporarily. Sarah never regained the few words she knew. Over the years, Sarah has gone through extensive testing, including a brain MRI, chromosomal testing and genetic testing. All of it was inconclusive. Her head was growing, she was walking and she wasn’t exhibiting the trademark symptoms of Rett, so doctors didn’t consider it. We decided to do whole exome sequencing at the end of 2015 just to ensure we had covered all of our bases.

The genetic counselor called me on March 8, 2016 with the news. There are no words to describe hearing the diagnosis for the first time. I didn’t know what it meant, but I knew it wasn’t good. Googling any genetic disorder immediately causes panic. I remember going home and crying and trying to cuddle with her, but she only wanted to watch Bubble Guppies. We were devastated, our families were devastated and yet, Sarah just kept smiling as if to tell us that it’s going to be okay.

Since that time, we have become very educated about Rett syndrome, and we have a strong team of therapists and a full-time nanny who are engaged in Sarah’s day to day life to help her learn, gain new skills and have fun. Sarah has started exhibiting some of the Rett tendencies, like hand wringing, grinding her teeth, holding her breath, mouthing things, and tremors. It’s almost as if someone tapped her on the shoulder and said, “hey, you have Rett, start acting like it.” It’s heartbreaking to say the least. We are very thankful that Sarah’s heart rhythms are normal and that she is not yet having seizures. Both could change at any time. You never get used to the inconsistencies – and there are so many. One day, she will walk up the stairs unassisted, and other days, she can’t do the motor planning to even lift her leg onto the next stair.

Sarah wants to talk, she wants to play, she wants to learn and she wants to be a kid. We would give anything to see her run, to hear her say “mom” or “dad” or even “Bubble Guppies.” None of that is possible without a cure. Sarah needs a cure. She needs drugs that help minimize the physical effects of Rett. Sarah needs awareness, prayers and acceptance. Please consider donating to research efforts to help find a cure for Rett syndrome. The cure will happen in Sarah’s lifetime; and funding is the key to expediting the work.

Thank you.

Fun Fact About Sarah: Sarah loves riding horses!

Support Sarah's fight against Rett syndrome. Donate today in honor of Sarah. All money will go to Rettsyndrome.org to help accelerate full spectrum research to cure Rett syndrome and empower families with knowledge and connectivity.